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rs118204110

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 Porphyria, acute intermittent
(A;G) 4 Porphyria, acute intermittent
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome11
Position119092419
GeneHMBS
is asnp
is mentioned by
dbSNPrs118204110
ebirs118204110
HLIrs118204110
Exacrs118204110
Varsomers118204110
Maprs118204110
PheGenIrs118204110
hapmaprs118204110
1000 genomesrs118204110
hgdprs118204110
ensemblrs118204110
gopubmedrs118204110
geneviewrs118204110
scholarrs118204110
googlers118204110
pharmgkbrs118204110
gwascentralrs118204110
openSNPrs118204110
23andMers118204110
23andMe allrs118204110
SNP Nexus

SNPshotrs118204110
SNPdbers118204110
MSV3drs118204110
GWAS Ctlgrs118204110
Max Magnitude5
OMIM609806
Desc
Variant0027
Relatedalso
ClinVar
Risk rs118204110(A;A)
Alt rs118204110(A;A)
Reference rs118204110(G;G)
Significance Pathogenic
Disease Acute intermittent porphyria
Variation info
Gene HMBS
CLNDBN Acute intermittent porphyria
Reversed 0
HGVS NC_000011.9:g.118963129G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001532.3,